{"id":"W2031499048","doi":"10.1007/s10545-008-0917-7","title":"What we know that could influence future treatment of phenylketonuria","year":2008,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":33,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill Genome Centre; Montreal Children's Hospital","funders":"","keywords":"Phenylalanine hydroxylase; Nature versus nurture; Phenotype; Mendelian inheritance; Phenylketonurias; Human genetics; OMIM : Online Mendelian Inheritance in Man; Genetics; Inborn error of metabolism; Gene; Hyperphenylalaninemia; Disease; Bioinformatics; Phenylalanine; Biology; Medicine; Endocrinology; Internal medicine","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000160966,0.0007433004,0.002405241,0.0003140271,0.00006752952,0.00007162589,0.0006594591,0.0004438247,0.0000736207],"category_scores_gemma":[0.00009410478,0.0005282105,0.001847767,0.0003771519,0.0002128525,0.00003551945,0.00008508554,0.0002279079,0.00000995919],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001409996,"about_ca_system_score_gemma":0.001395664,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004044247,"about_ca_topic_score_gemma":0.000002487292,"domain_scores_codex":[0.9969301,0.0003653386,0.00129144,0.0004568755,0.0005587143,0.0003975508],"domain_scores_gemma":[0.9962861,0.0000292562,0.001799164,0.0008681832,0.0003951096,0.0006222213],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000208712,0.0006561168,0.00004713398,0.00165581,0.001087212,0.00007732717,0.0001065907,0.00001805055,0.0001241705,0.00002191575,0.002956058,0.9930409],"study_design_scores_gemma":[0.001130765,0.0002405854,0.0003818406,0.002903725,0.002336683,0.0001483728,0.0001406864,5.180219e-7,0.0001189668,0.0000217527,0.9921328,0.0004433283],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.003571204,0.9938077,0.00001646895,0.00009374013,0.00172484,0.0005372241,0.0001941793,0.000005885393,0.00004877764],"genre_scores_gemma":[0.00008769913,0.9968022,0.0003010654,0.0001210706,0.001800192,0.00004003427,0.0001640077,0.00008910437,0.000594615],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9925976,"threshold_uncertainty_score":0.9997169,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02668596223277243,"score_gpt":0.316702005897025,"score_spread":0.2900160436642525,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}